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Cancer Genetics Referrals

This information is aimed at professionals considering referring a patient to the genetics service to discuss their personal or family history of cancer.

To return to the main Genetics homepage, please click here.

Cancer referral guidelines

The suggested criteria for referral is below but if you wish to seek advice about a referral, please call the NW Thames Regional Genetics Service on 020 8869 2795 and ask for a member of the cancer genetics team or emailLNWH-tr.nwtrgsclinicalgenetics@nhs.net

Referrals should be sent to:

NWTRGS
Level 8V
Northwick Park and St Mark’s Hospitals
Watford Road
Harrow
HA1 3UJ

Alternatively referrals can be emailed to LNWH-tr.geneticreferrals@nhs.net or faxed to 020 8869 3106

Expedited testing of BRCA1 and BRCA2 is available for patients who meet the testing criteria, where a positive BRCA result would alter management. Urgent referrals should be faxed or emailed on an Urgent BRCA1/BRCA2 Test Genetic Referral Form to avoid delay.

Process for referrals

Patients meeting the cancer referral criteria will be sent a family history questionnaire. This will be reviewed and either an appointment offered or a letter sent to the patient with appropriate screening advice. Patients should be informed that it is important for us to confirm the family history, where possible, in order to determine eligibility. Unfortunately this can cause delay especially if insufficient information is provided.

If a genetic cancer susceptibility gene has been identified we are happy to accept a referral but will need a copy of the genetic test report from the family member who has been tested. If a genetic cancer susceptibility gene has not been identified in the family then appointments are usually only offered to an affected individual. In some cases where there is no affected relative available for testing assessment of an unaffected individual would be considered. The affected relatives must be blood relations, but can be through the maternal or the paternal side. 

  • Breast cancer diagnosed before the age of 30
  • Triple negative breast cancer diagnosed < 60
  • Breast and ovarian cancer
  • Bilateral breast cancer both diagnosed < 50
  • Bilateral breast cancer and a relative diagnosed < 60
  • Breast cancer and FDR or SDR with breast cancer both diagnosed < 45
  • Non-mucinous ovarian cancer
  • Male breast cancer and FDR or SDR relative with male breast cancer or ovarian cancer
  • Breast cancer and Manchester Score* ≥15
  • Ashkenazi Jewish – affected with breast or ovarian cancer
  • Ashkenazi Jewish with a FDR or SDR (only if through the father) with breast cancer < 50 or ovarian cancer at any age. Where affected relative is not available for testing.
  • Unaffected by cancer but family Manchester score* of ≥ 17 and no affected relative available for testing

Prostate cancer

  • Prostate cancer and Manchester Score* of ≥15 

Immunohistochemistry (IHC) testing for mismatch repair genes testing should be done in ALL new diagnosis of Colorectal (CRC) - NICE 2017 and endometrial cancer (EC) diagnosed under the age of 50 years.

  • Loss or MSH2, MSH6 or isolated loss of PMS2
  • Isolated loss of MLH1 or loss of MLH1/PMS2 and normal methylation or absence BRAF mutation
  • Abnormal microsatellite instability (MSI) in patient or FDR (who is unavailable for testing).
  • Colorectal cancer diagnosed <50
  • Colorectal cancer and FDR with Colorectal cancer any age
  • Colon cancer and endometrial or ovarian / urinary tract / gastrointestinal tumours at any age.
  • More than 10 bowel polyps
  • More than 5 adenomatous bowel polyps, at any age, with family history of bowel polyps/cancer
  • Unusual bowel polyps such as harmatomatous polyps
  • Synchronous endometrial and ovarian cancer
  • Endometrial cancer and FDR with endometrial cancer both < 60
  • Medullary thyroid carcinoma
  • Two or more endocrine tumours
  • Paragangliomas at any age
  • Pheochromocytomas at any age
  • Parathyroid carcinoma or familial hyperparathyroidism or hyperparathyroidism < 35
  • Symptomatic pituitary tumours in children (<18) or pituitary macroadenoma < 30

We also run specialist renal cancer genetics clinic and will accept referrals for patients with renal cancer < 40 years.

You can contact the department for more information about the specialist renal and endocrine clinics.

Any family with multiple malignant melanoma a FDR Kinship (affected relatives who are FDR of each other and one is FDR of the proband).

Any two of sarcoma, breast cancer, brain tumour, leukaemia or adrenal cortical tumour (one must be <45).

Any family with an unusual pattern of cancer in the family, such as: three or more primary cancers in a single individual, more than one close relative diagnosed with a rare cancer at an unusually young age for that type of cancer.

Key: FDR - first degree relative  SDR - second degree relative


*Explanation of Manchester Score

Cancer, age at Diagnosis

Score

♀ Breast Cancer, <30

11

♀ Breast Cancer, 30-39

8

♀ Breast Cancer, 40-49

6

♀ Breast Cancer, 50-59

4

♀ Breast Cancer, >59

2

♂ Breast Cancer, <60

13

♂ Breast Cancer, >59

10

Ovarian cancer, <60

13

Ovarian cancer, >59

10

Pancreatic cancer

1

Prostate cancer, <60

2

Prostate cancer, >59

1